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Hoyeraal-Hreidarsson syndrome represents a severe variant of dyskeratosis congenita (Zinsser-Cole-Engman syndrome). This X-linked recessive, progressive, multisystemic disorder reported so far in 12 pedigrees is characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, mental retardation, progressive combined immune deficiency and aplastic anaemia. Mutations in the DKC1gene on Xq28 have been identified in the X-linked form of dyskeratosis congenita and in some Hoyeraal-Hreidarsson syndrome patients. We report on two sibs and two other unrelated patients with the striking clinical features of Hoyeraal-Hreidarsson syndrome. Noticeably, all four had early digestive problems, with chronic, bloody diarrhoea and feeding problems causing one of the most difficult problems in the supportive treatment of this uniformly lethal condition. Pathological changes in the proliferative compartment of the digestive mucosa included alterations of the glandular architecture and focal rarefaction of the glands. This aspect seems consistent with altered telomerase function associated with a dyskerin mutation which may decrease the proliferative capacity of digestive epithelial cells. A missense mutation 146 C-->T (Thr49Met) in the DKC1gene was found in two unrelated patients, whereas mutation screening was negative for one single case. The absence of mutations of the DKC1gene in patients with Hoyeraal-Hreidarsson syndrome emphasises the probable implication of one or more other loci.

Abstract Background The initial management of patients with sarcoma is a critical issue. We used the nationwide French National Cancer Institute -funded prospective sarcoma database NETSARC to report the management and oncologic outcomes in adolescents and young adults (AYAs) patients with sarcoma at the national level. Patients and methods NETSARC database gathers regularly monitored and updated data from patients with sarcoma. NETSARC was queried for patients (15–30 years) with sarcoma diagnosed from 2010 to 2017 for whom tumor resection had been performed. We reported management, locoregional recurrence-free survival (LRFS), progression-free survival (PFS), and overall survival (OS) in AYA treated in French reference sarcoma centers (RSC) and outside RSC (non-RSC) and conducted multivariable survival analyses adjusted for classical prognostic factors. Results Among 3,227 patients aged 15–30 years with sarcoma diagnosed between 2010 and 2017, the study included 2,227 patients with surgery data available, among whom 1,290 AYAs had been operated in RSC, and 937 AYAs in non-RSC. Significant differences in compliance to guidelines were observed including pre-treatment biopsy (RSC: 85.9%; non-RSC 48.1%), pre-treatment imaging (RSC: 86.8%; non-RSC: 56.5%) and R0 margins (RSC 57.6%; non-RSC: 20.2%) ( p < 0.001). 3y-OS rates were 81.1% (95%CI 78.3–83.6) in AYA in RSC and 82.7% (95%CI 79.4–85.5) in AYA in non-RSC, respectively. Whereas no significant differences in OS was observed in AYAs treated in RSC and in non-RSC, LRFS and PFS were improved in AYAs treated in RSC compared to AYAs treated in non-RSC (Hazard Ratios (HR): 0.58 and 0.83, respectively). Conclusions This study highlights the importance for AYA patients with sarcoma to be managed in national sarcoma reference centers involving multidisciplinary medical teams with paediatric and adult oncologists.

Ten to fifteen percent of children with acute lymphoblastic leukemia (ALL) relapse following treatment. Of these, less than 2% display ophthalmic relapses, which owing to their scarcity, are largely undocumented, leaving clinicians with few diagnostic and therapeutic recommendations, despite serious functional sequelae. We conducted a French multicenter retrospective study to collect all clinical, radiological, biological, and therapeutic data, and outcomes for children with ALL ophthalmic relapses. From 2000 to 2020, 20 ophthalmic relapses occurring after first-line therapy performed before January 1 , 2017 were included in our study: 14 B-ALL and 6 T-ALL. Fifteen patients (75%) had concomitant involvement of the central nervous system, and 11 (55%) a combined bone marrow relapse. Only 1 had an isolated ophthalmic relapse. Eight children (40%) died, 7 from a refractory disease and 1 from toxic death, and 4 patients relapsed. With a median follow-up of 63.1 months, 8 patients are currently alive in continuous complete remission with only 2 displaying severe ophthalmic sequelae. Although rare, ophthalmic relapse could have a significant impact on the functional prognosis of survivors. Their management must be multidisciplinary, with a central role given to ophthalmologists.

Résumé Ce travail étudie les relations perçues entre la satisfaction dans les domaines de vie jugés les plus importants et les contraintes imposées par la maladie et les soins (45 patients atteints d’une leucémie aiguë et âgés de 7 à 16 ans; outils: SEIQoL-DWet le PedsQL module cancer). Chez les 7–11 ans, la qualité de vie liée à la maladie est associée à la satisfaction dans les domaines de la famille et des activités physiques. Chez les adolescents, les relations sont plus complexes. L’étude conclut à la nécessité de variations de prise en charge selon l’âge.

L’inclusion des élèves présentant des troubles d’anxiété dans les classes de musique constitue un défi pour les enseignants. Pour assurer la réussite de tous les élèves, l’école doit se pencher sur les moyens disponibles en milieu scolaire. La différenciation pédagogique apparait comme une mesure à privilégier. Toutefois, les études recensées mentionnent que les enseignants y recourent rarement de façon systématique. Dans ce contexte, cet article vise à décrire les pratiques pédagogiques différenciées mises en place à l’intérieur des classes de musique. Pour y parvenir, les données autorapportées de 101 répondants ont été analysées. Inclusion of students with anxiety issues in music classes is a challenge for teachers. To ensure the success of all students, the school must look into the means available in educational environments. Differentiated instruction appears as a preferred measure. However, the studies reported mention that teachers seldom use them systematically. In this context, this article aims to describe the differentiated pedagogical practices implemented within music classes. To achieve this, self-reported data from 101 respondents were analyzed.

BACKGROUNDRecent analyses have shown an emerging positive association between sex work and human immunodeficiency virus (HIV) incidence among people who inject drugs (PWIDs) in the SurvUDI network. METHODSParticipants who had injected in the past 6 months were recruited across the Province of Quebec and in the city of Ottawa, mainly in harm reduction programs. They completed a questionnaire and provided gingival exudate for HIV antibody testing. The associations with HIV seroconversion were tested with a Cox proportional hazard model using time-dependent covariables including the main variable of interest, sexual activity (sex work; no sex work; sexually inactive). The final model included significant variables and confounders of the associations with sexual activity. RESULTSSeventy-two HIV seroconversions were observed during 5239.2 person-years (py) of follow-up (incidence ratestotal = 1.4/100 py; 95% confidence interval [CI], 1.1–1.7; sex work = 2.5/100 py; 95% CI, 1.5–3.6; no sex work = 0.8/100 py; 95% CI, 0.5–1.2; sexually inactive = 1.8/100 py; 95% CI, 1.1–2.5). In the final multivariate model, HIV incidence was significantly associated with sexual activity (sex workadjusted hazard ratio [AHR], 2.19; 95% CI, 1.13–4.25; sexually inactiveAHR, 1.62; 95% CI, 0.92–2.88), and injection with a needle/syringe used by someone else (AHR, 2.84; 95% CI, 1.73–4.66). CONCLUSIONSSex work is independently associated with HIV incidence among PWIDs. At the other end of the spectrum of sexual activity, sexually inactive PWIDs have a higher HIV incidence rate, likely due to more profound dependence leading to increased vulnerabilities, which may include mental illness, poverty, and social exclusion. Further studies are needed to understand whether the association between sex work and HIV is related to sexual transmission or other vulnerability factors.

ObjectivesThe objectives of this study were: (1) to examine the correlates of HIV positivity among participants who injected drugs and engaged in sex work (PWID-SWs) in the SurvUDI network between 2004 and 2016, after stratification by sex, and (2) to compare these correlates with those of sexually active participants who did not engage in sex work (PWID non-SWs).Design and settingThis biobehavioural survey is an open cohort of services where participants who had injected in the past 6 months were recruited mainly through harm reduction programmes in Eastern Central Canada.ParticipantsData from 5476 participants (9223 visits in total; 785 not included in multivariate analyses due to missing values) were included.MethodsParticipants completed an interviewer-administered questionnaire and provided saliva samples for anti-HIV antibody testing. Generalised estimating equations taking into account multiple participations were used.ResultsBaseline HIV prevalence was higher among SWs compared with non-SWs (women: 13.0% vs 7.7%; P<0.001, and men: 17.4% vs 10.8%; P<0.001). PWID-SWs were particularly susceptible to HIV infection as a result of higher levels of vulnerability factors and injection risk behaviours. They also presented different risk-taking patterns than their non-SWs counterparts, as shown by differences in correlates of HIV positivity. Additionally, the importance of sex work for HIV infection varies according to gender, as suggested by a large proportion of injection risk behaviours associated with HIV among women and, conversely, a stronger association between sexual behaviours and HIV positivity observed among men.ConclusionThese results suggest that sex work has an impact on the risk of HIV acquisition and that risk behaviours vary according to gender. Public health practitioners should take those specificities into account when designing HIV prevention interventions aimed at PWIDs.

In terms of overall survival (OS), limited data are available for the very long-term outcomes of children treated for optic pathway glioma (OPG) with up-front chemotherapy. Therefore, we undertook this study with the aim of clarifying long-term OS and causes of death in these patients. We initiated and analyzed a historical cohort study of 180 children with OPG treated in France with BB-SFOP chemotherapy between 1990 and 2004. The survival distributions were estimated using Kaplan-Meier method. The effect of potential risk factors on the risk of death was described using Cox regression analysis. The OS was 95% [95% CI: 90.6-97.3] 5 years after diagnosis and significantly decreased over time without ever stabilizing: 91.6% at 10 years [95% CI: 86.5-94.8], 80.7% at 15 years [95% CI: 72.7-86.8] and 75.5% [95% CI: 65.6-83] at 18 years. Tumor progression was the most common cause of death (65%). Age and intracranial hypertension at diagnosis were significantly associated with a worse prognosis. Risk of death was increased by 3.1[95% CI: 1.5-6.2] (p=0.002) for patients less than 1 year old at diagnosis and by 5.2[95% CI: 1.5-17.6] (p=0.007) for patients with initial intracranial hypertension. Boys without diencephalic syndrome had a better prognosis (HR: 0.3 [95% CI: 0.1-0.8], p=0.007). This study shows that i) in children with OPG, OS is not as favorable as previously described and ii) patients can be classified into 2 groups depending on risk factors (age, intracranial hypertension, sex and diencephalic syndrome) with an OS rate of 50.4% at 18 years [95% CI: 31.4-66.6] in children with the worst prognosis. These findings could justify, depending on the initial risk, a different therapeutic approach to this tumor with more aggressive treatment (especially chemotherapy) in patients with high risk factors.

L'inclusion des eleves presentant des troubles d'anxiete dans les classes de musique constitue un defi pour les enseignants. Pour assurer la reussite de tous les eleves, l'ecole doit se pencher sur les moyens disponibles en milieu scolaire. La differenciation pedagogique apparait comme une mesure a privilegier. Toutefois, les etudes recensees mentionnent que les enseignants y recourent rarement de facon systematique. Dans ce contexte, cet article vise a decrire les pratiques pedagogiques differenciees mises en place a l'interieur des classes de musique. Pour y parvenir, les donnees autorapportees de 101 repondants ont ete analysees.